Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SLC52A3 (solute carrier family 52 (riboflavin transporter), member 3)

Identity

Other namesBVVLS
BVVLS1
C20orf54
RFT2
RFVT3
bA371L19.1
hRFT2
HGNC (Hugo) SLC52A3
LocusID (NCBI) 113278
Location 20p13
Location_base_pair Starts at 740724 and ends at 749228 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

External links

Nomenclature
HGNC (Hugo)SLC52A3   16187
Cards
Entrez_Gene (NCBI)SLC52A3  113278  solute carrier family 52 (riboflavin transporter), member 3
GeneCards (Weizmann)SLC52A3
Ensembl hg19 (Hinxton)ENSG00000101276 [Gene_View]  chr20:740724-749228 [Contig_View]  SLC52A3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000101276 [Gene_View]  chr20:740724-749228 [Contig_View]  SLC52A3 [Vega]
ICGC DataPortalENSG00000101276
cBioPortalSLC52A3
AceView (NCBI)SLC52A3
Genatlas (Paris)SLC52A3
WikiGenes113278
SOURCE (Princeton)SLC52A3
Genomic and cartography
GoldenPath hg19 (UCSC)SLC52A3  -     chr20:740724-749228 -  20p13   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SLC52A3  -     20p13   [Description]    (hg38-Dec_2013)
EnsemblSLC52A3 - 20p13 [CytoView hg19]  SLC52A3 - 20p13 [CytoView hg38]
Mapping of homologs : NCBISLC52A3 [Mapview hg19]  SLC52A3 [Mapview hg38]
OMIM211500   211530   613350   
Gene and transcription
Genbank (Entrez)AI244952 AK074650 AK291706 BC009750 DA302552
RefSeq transcript (Entrez)NM_033409
RefSeq genomic (Entrez)AC_000152 NC_000020 NC_018931 NG_027687 NT_011387 NW_001838652 NW_004929416
Consensus coding sequences : CCDS (NCBI)SLC52A3
Cluster EST : UnigeneHs.283865 [ NCBI ]
CGAP (NCI)Hs.283865
Alternative Splicing : Fast-db (Paris)GSHG0018941
Alternative Splicing GalleryENSG00000101276
Gene ExpressionSLC52A3 [ NCBI-GEO ]     SLC52A3 [ SEEK ]   SLC52A3 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NQ40 (Uniprot)
NextProtQ9NQ40  [Medical]
With graphics : InterProQ9NQ40
Splice isoforms : SwissVarQ9NQ40 (Swissvar)
Domains : Interpro (EBI)Endogenous_retrovirus_rcpt   
Related proteins : CluSTrQ9NQ40
Domain families : Pfam (Sanger)DUF1011 (PF06237)   
Domain families : Pfam (NCBI)pfam06237   
DMDM Disease mutations113278
Blocks (Seattle)Q9NQ40
Human Protein AtlasENSG00000101276
Peptide AtlasQ9NQ40
HPRD09843
IPIIPI00012749   IPI00215738   
Protein Interaction databases
DIP (DOE-UCLA)Q9NQ40
IntAct (EBI)Q9NQ40
FunCoupENSG00000101276
BioGRIDSLC52A3
IntegromeDBSLC52A3
STRING (EMBL)SLC52A3
Ontologies - Pathways
QuickGOQ9NQ40
Ontology : AmiGOplasma membrane  integral component of plasma membrane  vitamin metabolic process  water-soluble vitamin metabolic process  riboflavin metabolic process  sensory perception of sound  riboflavin transporter activity  riboflavin transport  cellular response to heat  small molecule metabolic process  
Ontology : EGO-EBIplasma membrane  integral component of plasma membrane  vitamin metabolic process  water-soluble vitamin metabolic process  riboflavin metabolic process  sensory perception of sound  riboflavin transporter activity  riboflavin transport  cellular response to heat  small molecule metabolic process  
Pathways : KEGGVitamin digestion and absorption   
Protein Interaction DatabaseSLC52A3
DoCM (Curated mutations)SLC52A3
Wikipedia pathwaysSLC52A3
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerSLC52A3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC52A3
dbVarSLC52A3
ClinVarSLC52A3
1000_GenomesSLC52A3 
Exome Variant ServerSLC52A3
SNP (GeneSNP Utah)SLC52A3
SNP : HGBaseSLC52A3
Genetic variants : HAPMAPSLC52A3
Genomic VariantsSLC52A3  SLC52A3 [DGVbeta]
Mutations
ICGC Data PortalENSG00000101276 
Somatic Mutations in Cancer : COSMICSLC52A3 
CONAN: Copy Number AnalysisSLC52A3 
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)20:740724-749228
Mutations and Diseases : HGMDSLC52A3
OMIM211500    211530    613350   
MedgenSLC52A3
NextProtQ9NQ40 [Medical]
GENETestsSLC52A3
Disease Genetic AssociationSLC52A3
Huge Navigator SLC52A3 [HugePedia]  SLC52A3 [HugeCancerGEM]
snp3D : Map Gene to Disease113278
DGIdb (Drug Gene Interaction db)SLC52A3
General knowledge
Homologs : HomoloGeneSLC52A3
Homology/Alignments : Family Browser (UCSC)SLC52A3
Phylogenetic Trees/Animal Genes : TreeFamSLC52A3
Chemical/Protein Interactions : CTD113278
Chemical/Pharm GKB GenePA25764
Clinical trialSLC52A3
Cancer Resource (Charite)ENSG00000101276
Other databases
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
CoreMineSLC52A3
GoPubMedSLC52A3
iHOPSLC52A3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 01:30:16 CET 2014

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